A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578560



Internal ID16019283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8487389..8550705hg38UCSC Ensembl
Innerchr19:8552273..8615589hg19UCSC Ensembl
Innerchr19:8458273..8521589hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3863317
hg1963317
hg1863317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6258n54
Supporting Variantsnssv1150038
Samples1780862415_A
Known GenesHNRNPM, MYO1F, PRAM1, ZNF414
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578560
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer